RGD:11650759 Rat Genome Database

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Variant: RGD:11650759 -  Homo sapiens

RGD ID: 11650759
RS ID: rs886057028
ClinVar ID: CV350595
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNE1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 35,884,509
GRCh38 21 34,512,211
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009091.1:g.4105C>T
NC_000021.8:g.35884509G>A
NM_000219.5:c.-561C>T
LRG_290:g.4105C>T
More... 		06/14/2016 2kb upstream variant uncertain significance Familial long QT syndrome; Jervell-Lange Nielsen syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000294658 CLINVAR
  RCV000343856 CLINVAR
  RCV000399446 CLINVAR
dbSNP (RS) rs886057028 CLINVAR
MedGen C0022387 CLINVAR
  C0023976 CLINVAR
  C1141890 CLINVAR
NCBI Gene KCNE1 CLINVAR
OMIM 176261 CLINVAR
  192500 CLINVAR
SNOMED CT 373905003 CLINVAR
  442917000 CLINVAR
  9651007 CLINVAR